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Items: 6

1.

YAO SYNDROME, SUSCEPTIBILITY TO

MedGen UID:
934956
Concept ID:
C4310989
Finding
2.

INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE), SUSCEPTIBILITY TO

MedGen UID:
934867
Concept ID:
C4310900
Finding
3.

Crohn disease-associated growth failure, susceptibility to

MedGen UID:
436348
Concept ID:
C2675113
Finding
4.

Blau syndrome

Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998). [from OMIM]

MedGen UID:
348835
Concept ID:
C1861303
Disease or Syndrome
5.

Crohn disease

Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory bowel disease. Crohn's can affect any area from the mouth to the anus. It often affects the lower part of the small intestine called the ileum. The cause of Crohn's disease is unknown. It may be due to an abnormal reaction by the body's immune system. It also seems to run in some families. It most commonly starts between the ages of 13 and 30. The most common symptoms are pain in the abdomen and diarrhea. Other symptoms include. -Bleeding from the rectum. -Weight loss. -Fever. Your doctor will diagnose Crohn's disease with a physical exam, lab tests, imaging tests, and a colonoscopy. Crohn's can cause complications, such as intestinal blockages, ulcers in the intestine, and problems getting enough nutrients. People with Crohn's can also have joint pain and skin problems. Children with the disease may have growth problems. There is no cure for Crohn's. Treatment can help control symptoms, and may include medicines, nutrition supplements, and/or surgery. Some people have long periods of remission, when they are free of symptoms. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
3664
Concept ID:
C0010346
Disease or Syndrome
6.

Ulcerative colitis

Ulcerative colitis (UC) is a disease that causes inflammation and sores, called ulcers, in the lining of the rectum and colon. It is one of a group of diseases called inflammatory bowel disease. UC can happen at any age, but it usually starts between the ages of 15 and 30. It tends to run in families. The most common symptoms are pain in the abdomen and blood or pus in diarrhea. Other symptoms may include. -Anemia. -Severe tiredness. -Weight loss. -Loss of appetite. -Bleeding from the rectum. -Sores on the skin. -Joint pain. -Growth failure in children. About half of people with UC have mild symptoms. Doctors use blood tests, stool tests, colonoscopy or sigmoidoscopy, and imaging tests to diagnose UC. Several types of drugs can help control it. Some people have long periods of remission, when they are free of symptoms. In severe cases, doctors must remove the colon. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
3532
Concept ID:
C0009324
Disease or Syndrome
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